Progeria in Children: Causes, Characteristics & Research

Introduction to Progeria

Progeria is a somewhat mysterious illness that affects children around the globe. The rapid aging of individuals who suffer from the condition has intrigued scientists and researchers for decades. Because the disease is so rare, very little is known about it.

The purpose of this discussion is to explore the various aspects of this condition. We begin by defining Progeria, then examine its characteristics and causes, and finally discuss recent developments that may aid in the prevention and treatment of the disease.

Defining Progeria

The Progeria Research Foundation defines Progeria as "a rare genetic condition characterized by an appearance of accelerated aging in children" ("What is Progeria"). An estimated 1 in 4 million children suffer from the condition. The disease affects both sexes and all races equally and is usually diagnosed within the first two years of a child's life.

Currently, only about 35 children worldwide have been diagnosed with the disorder. Since the disease was first discovered, there have been 100 reported cases in total. Children with the condition have been identified in South Africa, South America, Australia, Mexico, Germany, the United States, the United Kingdom, Austria, and Canada ("What is Progeria").

The word Progeria comes from the Greek language and means "prematurely old." The most common form of the condition is Hutchinson-Gilford Progeria Syndrome, which was first recognized by Dr. Jonathan Hutchinson in 1886 and later described by Dr. Hastings Gilford in 1904 ("What is Progeria").

The effects of the condition can be devastating for affected children and their families. According to the Hutchinson-Gilford Progeria Syndrome Network, children with Progeria age at a rate approximately seven times greater than normal. By the time a child with Progeria reaches the age of ten, he or she typically presents with the same cardiac, respiratory, and arthritic conditions as a 70-year-old ("Introduction").

Characteristics and Causes

There are a number of common characteristics shared by individuals with Progeria. These include severe growth retardation in infancy, hip dislocations, aged skin, dwarfism, baldness, stiff joints, a pinched nose, loss of subcutaneous tissue, absence of eyebrows and eyelashes, and a small jaw and face relative to head size. Notably, children with the condition look nearly identical to one another even when they come from different racial groups ("What is Progeria").

Interestingly, children with Progeria do not exhibit many of the ailments commonly associated with old age, such as cataract formation, neuronal changes, diabetes mellitus, or tumors (Dyer and Sinclair). Individuals with Progeria do tend to develop cardiovascular problems and atherosclerosis ("What is Progeria"), as well as skeletal abnormalities such as resorption of distal phalanges and diffuse osteoporosis. Importantly, the disease does not affect mental capacity in any way (Dyer and Sinclair).

An article entitled "The Premature Ageing Syndromes: Insights into the Ageing Process," published in Age and Ageing magazine, explains that there are also biochemical characteristics associated with the condition. One of the most significant is an elevated level of hyaluronic acid. As the article notes:

"The most thoroughly investigated is the finding of 10–20 times greater urinary excretion of hyaluronic acid in patients with progeria compared with controls. Hyaluronic acid is an unsulphated glycosaminoglycan known to be involved in maintaining the integrity of skeletal, muscular, and vascular systems. Alterations in hyaluronic acid concentrations are linked to processes such as scleroderma-like skin changes, collagen hardening, and calcification of arterial walls. Brown found that hyaluronic acid levels increase with age in normal subjects from around 1% of total glycosaminoglycan content to around 5–6% over the age of 70, possibly increasing further at very advanced ages." (Dyer and Sinclair)

Researchers believe that this elevated presence of hyaluronic acid is what drives the accelerated aging process in those with Progeria. Although hyaluronic acid is a naturally occurring substance, the amount excreted through urination is unusually high in those with the condition. Scientists note that this elevated level appears unique to Progeria patients and others who suffer from related aging-related conditions.

There are also genetic and chromosomal abnormalities characteristic of the syndrome. Studies using cultured fibroblasts have demonstrated a reduced in-vitro growth potential and a shortened replicative life span in Progeria patients (Dyer and Sinclair). These findings point to fundamental disruptions in normal cellular aging mechanisms.

The underlying cause of Progeria is believed to be a mutant gene. According to the Progeria Research Foundation:

"Progeria is considered to be the result of a dominant mutation because the gene in question has one normal copy and one abnormal copy, as opposed to a recessive mutation in which both copies are abnormal. Because neither parent carries or expresses the mutation, each case is believed to represent a sporadic new mutation which happens at the time of conception." ("What is Progeria?")

Studies have also identified certain patterns within the families of affected children. For instance, the parents of children with Progeria tend to be at least six years apart in age — above the national average of two years. Additionally, researchers have found that siblings or identical twins within the same family typically do not share the condition ("What is Progeria?").

Children with Progeria usually die in the early part of their second decade of life, most commonly in their early teenage years, although some patients have lived into their early twenties. Death is most often caused by heart failure and myocardial infarction (Dyer and Sinclair).

Conclusion

This discussion explored the various aspects of the condition known as Progeria. We began by defining the disease and established that it is extremely rare, affecting only approximately 35 children worldwide at any given time. We then examined the characteristics and causes of the condition, finding that individuals with the disorder often present with aged skin, dwarfism, and baldness, and that the disease results from a sporadic dominant mutation in the Lamin A gene. Finally, we reviewed recent scientific developments, including the isolation of the causative gene by researchers at the National Human Genome Research Institute and the progress being made toward a genetic test that could allow for earlier identification and, ultimately, improved treatment of the condition.

Works Cited

Dyer, Christopher A.E., and Alan J. Sinclair. "The Premature Ageing Syndromes: Insights into the Ageing Process." Age and Ageing, Jan. 1998.

"Gene is Discovered for Rapid Aging Disease in Children." CNN News, 17 Apr. 2003.

"Introduction." Hutchinson-Gilford Progeria Syndrome, 2003.

"What is Progeria." The Progeria Research Foundation, 2003.